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At least 451 records · Page 25Linked to original sources
PubMed2000

Endoscopic injection sclerotherapy control of intractable hematuria following radiation-induced hemorrhagic cystitis. A novel approach.

OBJECTIVE: To establish the utility of endoscopic sclerotherapy using 1% ethoxysclerol for the control of intractable hematuria following post-irradiation telangiectatic cystitis (PTC). METHODS: Our experience of treating 4 patients (one female and three male) with massive exsanguinating hematuria resulting from PTC, using a combined intralesional and perilesional injection of 1% ethoxysclerol, is presented. Observation on the distribution, grading of telangiectasis and pattern of bleeding are made. RESULTS: A dramatic and lasting cessation of the hematuria in all the 4 patients was achieved during the follow-up period varying from 1 month to 4 years. CONCLUSION: Endoscopic injection sclerotherapy is a simple, highly effective, less invasive new technique in the management of massive and intractable hematuria due to radiation-induced telangiectasia of the urinary bladder.

Adult↗
PubMedDate not supplied

Limited cutaneous systemic sclerosis: report of one case.

We report a case of systemic sclerosis, limited type, in a 5 year old boy in Taiwan. He presented with erythema, tight skin over his face and digits, subcutaneous calcification, telangiectasis, as well as Raynaud's phenomenon. The laboratory data showed weakly positive antinuclear antibody (ANA), and Topoisomerase 1 antibody (anti-Scl-70) titers. However his esophagogram, CO diffusion capacity, as well as cardiac and renal function were all normal. He suffered from the skin change for 2 to 3 years before visiting our pediatric clinic when he was 7 years old. We gave him Dipyridamole, D-penicillamine, Colchicine, and Nifedipine. There was some remission of the scleroderma and Raynaud's phenomenon after our treatment.

Child, Preschool↗
PubMed2001

[Myelinated nerve fibers associated with cilioretinal artery occlusion].

Although the myelinated nerve fibers are considered as benign, cases associated with retinal vascular abnormalities (telangiectasis, neovascularization, vascular occlusions) have recently been reported, suggesting a possible pathogenic correlation between these elements. Our observation presents a 44-year-old patient, with a sudden decrease of visual acuity in the right eye, discal and peridiscal myelinated nerve fibers, associated with cilioretinal artery occlusion. The general clinical and laboratory examination, except for a drug stabilized arterial hypertension, did not reveal other local or general embolic factors. One year later, the decrease in visual acuity had remained unchanged and the area of the myelinated nerve fibers had diminished. Based on the association between the myelinated nerve fibers, the cilioretinal artery occlusion, the young age of the patient, and the absence of other local or general embolic factors, we consider there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the cilioretinal artery route, a structurally vulnerable artery.

Adult↗
PubMedDate not supplied

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature.

In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome). Among those with congenital pulmonary arteriovenous fistula, the diagnosis is made during infancy in only 15% of patients. We present a case of pulmonary arteriovenous fistula in a newborn and review the literature. This rare condition of newborns can be treated with different surgical procedures. Only 17 cases of newborn pulmonary arteriovenous fistula/have been reported, and only two of those had associated Rendu-Osler-Weber syndrome. The results of surgical procedures were good in most of these cases. We treated our case with lobectomy successfully.

Arteriovenous Fistula↗
PubMed2001

[Myelinated nerve fibers associated with juxtapapillary haemorrhages].

The myelinated nerve fibers (MNF) are o congenital anomaly characterized by the extension of the myelinisation process anterior from the lamina cribosa. The incidence of myelinated nerve fibers is 0.3-0.6% in patients and 0.54% in eyes from autopsies. Although these represent benign lesion, rarely are associated with retinal abnormalities: vascular abnormality (retinal telangiectasis, cranial-facial lesions, coloboma of the iris, keratoconus, myopia/strabismus, amblyopia). Myelinated nerve fibers asSociated with juxtapapillary haemorrhages was not reported in the available literature. We describe the clinical findings and diagnostic particularities of myelinated retinal nerve fibers associated with juxtapapillary haemorrhages in a personal case. An 40-year-old woman was referred for unilateral papillary abnormalities. The diagnosis was myelinated retinal nerve fibers as white striated patches with feathery edges, associated with two juxtapapillary haemorrhages. The clinical and pathogenic features are discussed. Based on the association between the myelinated nerve fibers, the juxtapapillary haemorrhages there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the retinal artery, a structural vulnerable artery.

Adult↗
PubMed2001

[Dermatomyositis and polymyositis: clinical aspects and treatment].

Dermatomyositis and polymyositis are the two major idiopathic inflammatory myopathies. The Bohan and Peter's criteria are still useful despite the probably different pathogenesis of the two myopathies. Cutaneous manifestations of dermatomyositis include heliotrope rash and Gottron's papules. The heliotrope rash, with or without edema, in a distribution involving periorbital skin is very suggestive of the diagnosis. Papules may be found overlying the "kneedle" of the hand or the elbows, knees, feet. Periungueal erythema with telangiectasis were characteristic but not pathognomonic. Scalp involvement is common. Skin lesions of dermatomyositis may precede the development of the myopathy and may persist after the control of the myositis. Some patients have an amyopathic dermatomyositis with normal muscle-enzyme, magnetic resonance scan and muscle biopsy. Muscle disease affects the proximal muscles, is generally symmetrical and symptoms are fatigue, weakness and sometimes myalgia. Proximal dysphagia reflects an involvement of striated muscle of the pharynx or proximal esophagus. Camptocormia reflects a severe involvement of paravertebral muscle. Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), arthralgias or arthritis, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with dermatomyositis. Malignant disease is associated with idiopathic inflammatory myopathies with a frequency of approximatively 10 to 15% in dermatomyositis and 5 to 10% in polymyositis and is strongly correlated with age, more than 50% of the patient over 65 years old were found to have a cancer. In the absence of malignant disease, the mainstay therapy for dermatomyositis and polymyositis is systemic corticosteroids (mostly 1mg/kg). In the lake of response or high dose dependance, intravenous immunoglobulins or immunosuppressive drugs like methotrexate or azathioprine may be discuss. Cyclophosphamide show some effectiveness in interstitial pneumonitis. Cyclosporin might be effective in children, less in adults. The efficacy of tacrolimus, mycophenolate mofetil, leflunomide and anti-TNF therapy need some prospective studies to determine if there are of value in idiopathic inflammatory myositis.

Anti-Inflammatory Agents↗
PubMed2002

[Intracerebral radiation-induced cavernous angiomas].

We present four cases of cerebral cavernous angioma that developed after radiatherapy for brain tumor in three cases and for cavernous angioma in one case. The time interval between irradiation and the detection of the cavernous angioma varied from three to nine years and the doses from 24 to 60 Grays. Brain hemorrhage appeared in two cases. Explanation for the formation of cavernous malformations is unclear but is probably related to proliferation and dilatation of the vascular endothelium with formation of capillary telangiectasis with evolution to cavernous angiomas. The pediatric brain appears particularly vulnerable to radiation injury. The risk of hemorrhage appears higher than with spontaneous cavernous malformations.

Adolescent↗
PubMed1984

Primary immune disorders in children and their diagnosis.

The clinical features and laboratory findings of 18 children with various primary immune deficiencies and their immunologic diagnosis have been discussed. In 3 patients of ataxia telangiectasis human foetal thymus transplantations have been performed with some success.

Adolescent↗
PubMed2002

Clinical presentation and anatomic distribution of chronic venous insufficiency of the lower limb in a typical Mediterranean population.

BACKGROUND: The aim of this study was to demonstrate the characteristics of lower limb chronic venous insufficiency (CVI) in a homogeneous Mediterranean population. METHODS: Investigation of 694 patients with uni- or bilateral symptoms and signs of lower limb CVI using colour duplex scanning. Limbs with previous venous surgery were excluded. The limbs were classified according to history and ultrasonic findings into those with post-thrombotic and those with primary CVI. The clinical presentation according to the CEAP classification was correlated to the anatomic distribution of venous reflux. RESULTS: Most of the symptomatic limbs (537/656, 81.5%) with primary CVI belonged to classes 1 to 3. In these limbs reflux confined to superficial veins was very common (64.5%, 424/656) whereas the prevalence of deep and perforator vein reflux was 18.5 and 25.5%, respectively. In contrast most of the limbs (69.5%) with post-thrombotic CVI belonged to classes 4 to 6, had a complex pattern of reflux, and involvement of deep and perforator veins was common (86.5 and 48%, respectively). In about a quarter (24%) of patients with suspected primary CVI no reflux was found in either limb on duplex scanning. Most of them (48%) had telangiectasis. Bilateral reflux was found in 71% of the patients with primary CVI. CONCLUSIONS: The clinical presentation was worse in limbs with post-thrombotic CVI than in those with a primary disease. Post-thrombotic CVI was associated with a complex pattern of reflux, affecting mostly the deep and perforator veins, whereas superficial reflux was the most common pattern in limbs with primary CVI. Therefore, surgery aiming to eliminate superficial reflux would confer only a minimal benefit in limbs with post-thrombotic CVI but would treat the majority of the limbs with the primary CVI. The high prevalence of bilateral reflux found in patients with primary CVI suggests a bilateral predisposition, which supports the hypothesis of the existence of a generalised venous disease.

Female↗
PubMed2002

Rosacea: a common, yet commonly overlooked, condition.

Rosacea is a common, but often overlooked, skin condition of uncertain etiology that can lead to significant facial disfigurement, ocular complications, and severe emotional distress. The progression of rosacea is variable; however, typical stages include: (1) facial flushing, (2) erythema and/or edema and ocular symptoms, (3) papules and pustules, and (4) rhinophyma. A history of exacerbation by sun exposure, stress, cold weather, hot beverages, alcohol consumption, or certain foods helps determine the diagnosis; the first line of treatment is avoidance of these triggering or exacerbating factors. Most patients respond well to long-term topical antibiotic treatment. Oral or topical retinoid therapy may also be effective. Laser treatment is an option for progressive telangiectasis or rhinophyma. Family physicians should be able to identify and effectively treat the majority of patients with rosacea. Consultation with subspecialists may be required for the management of rhinophyma, ocular complications, or severe disease. (Am Fam Physician 2002;66:442.)

Administration, Cutaneous↗
PubMed2002

Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.

PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. METHODS: Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. RESULTS: Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. CONCLUSIONS: The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse.

Animals↗
PubMed2002

[A case of nonspecific interstitial pneumonia associated with amyopathic dermatomyositis efficiently treated with a combination of cyclosporin A and prednisolone].

A 36-year-old man was admitted to our hospital complaining of cough, dyspnea on exertion, skin eruptions, and joint pain. Characteristic skin lesions such as erythema around the nails, telangiectasis, and edema of the eyelids were observed in this patient. He had never complained of muscle symptoms, and his laboratory examinations showed no elevation of either CPK or aldolase. From several lines of evidence including the skin biopsy findings, amyopathic dermatomyositis was diagnosed. Chest X-ray films showed subpleural funicular opacities and consolidation in both lower lung fields. Lung biopsy specimens taken under video-assisted thoracoscopic surgery revealed nonspecific interstitial pneumonia, group II. Oral prednisolone treatment was initiated at 60 mg daily together with oral cyclosporin A (100-150 mg daily). The minimum serum concentration of cyclosporin A was maintained between 100 and 200 ng/ml. Respiratory symptoms gradually improved, and the oral prednisolone dose was tapered off. Pulmonary function and chest CT findings showed marked improvement.

Adult↗
PubMed2002

[ATM and Cancer].

The mutation of AT gene (ATM) leads to the AT disease (ataxia telangiectasis), the cancer incidence of AT patients and its carriers are significantly higher than the normal persons. And they are easy to have lymphoid tumors, including the lymphoma and leukemia et al. These indicate the ATM play a important role in the cancers pathogenesis mechanism. The ATM gene locate in the human chromosome 11q22-23, and the ATM is a kind of nuclear protein, its major functional domain is P13K (phosphatidylinositol 3-kinase), locates on the carboxy terminus. ATM protein plays a critical role in the signal transduction of cell cycle checkpoint, the repair of damaged DNA and the apoptosis. The mutation of the ATM gene leads to the functional and structural change of ATM protein in the AT patient, then leads to the abnormality of cell cycle checkpoint and the DNA damage repair, the apoptosis sensitivity increase. So the AT patients and their cells are radiosensitive, the characteristic of AT patient suggests the ATM gene is valuable in the cancer's gene therapy

Ataxia Telangiectasia↗
PubMed1999

[Diagnosis and surgical treatment of brain-stem vascular malformations].

OBJECTIVE: To study the various aspects of the brain-stem vascular malformations, including the histopathology, clinical presentation, neuroimaging, techniques of surgical operation. METHODS: A retrospective analysis of 100 patients with 105 brain-stem vascular malformations had underwent microsurgery from 1987 to 1997 in the institute. RESULTS: Most brain-stem vascular malformations are cavernoma, some of them are not easily differentiated from telangiectasis. Meanwhile, they could also associate with venous malformation. In our group, 67% patients suffered from hemorrhage more than one time. The average number of bleeding in female is higher than in male's. There was no operative mortality. The outcome was improved and stable in 65% patients. Ninety-two patients have followed-up half a year to 11 years. Rebleeding after operation occurred in 4% cases. CONCLUSIONS: Active microsurgery should be adopted carefully for the patients with symptomatic brain-stem vascular malformations, while those with asymptomatic lesions need long-term clinical observations and neuroimaging follow-up.

Adolescent↗
PubMed2003

[The relationship between ATM gene silence inducing apoptosis susceptibility and abnormal CDK activity].

OBJECTIVE: To explore the molecular elements responsible for the enhanced apoptotic susceptibility in U937 cells mediated by silencing atactic telangiectasis mutation (ATM) gene. METHODS: Two U937 cell mutants, U937-ASPI3K (ATM gene negative) and U937-pZEOSV2 (+) (ATM gene positive) were used as a cell model system. Apoptosis was examined by measuring free nucleosome concentrations in U937 cells. Western blotting was employed to measure nuclear protein abundances of cdc25A, cdc25B, cdc25C, total p34cdc2, p34cdc2 (Thr161) or p34cdc2 (Thr14, Tyr15). RT-PCR was used to estimate cdc25 transcript levels. RESULTS: U937-ASPI3K exhibited an enhanced apoptotic susceptibility to lower dosage of irradiation, which could not be blocked by protein synthesis inhibitor. Protein serine-theronine phosphatase inhibitor or cyclin-dependent kinase (CDK) inhibitors could abolish the enhancement. Upon irradiation, p34cdc2 in U937-pZEOSV2 (+) was in an inactive state owing to phosphorylation of Thr 14 and Tyr15, which was associated with a dramatic decrease of nuclear cdc25A, cdc25B and cdc25C poteins. In contrast, p34cdc2 in U937-ASPI3K was in an active state owing to the low phosphorylation of Thr14 and Tyr15, which was associated with constant nuclear cdc25A, cdc25B and cdc25C protein abundance before and after irradiation. The responsive decrease of nuclear cdc25 proteins occurred at the post-transcription level. CONCLUSION: Silencing ATM gene blocks the irradiation induced responsive decrease of nuclear cdc25 proteins, resulting in an abnormal activation p34cdc2 is the critical molecular mechanism for the enhanced apoptotic responses.

Apoptosis↗
PubMed1992

Spectral and color Doppler sonography.

Color Doppler sonography has become an integral part of modern hepatic sonography. Color Doppler can enhance the conspicuity of focal lesions and bile ducts in jaundiced patients by illuminating normal vessels with flow. Spectral and color Doppler may prove useful in limiting the sonographic differential diagnosis of focal liver lesions. Color flow sonography effectively evaluates pseudoaneurysms, A-V fistulae, collaterals, and flow reversal in portal hypertension, venous clot and tumor invasion, Budd-Chiari syndrome, hereditary hemorrhagic telangiectasis, and many other hepatic vascular lesions. We have found it invaluable in evaluating cirrhotic and liver transplant patients.

Bile Ducts↗
PubMed2004

[Mutation of the activin receptor-like kinase 1(ALK1) gene and the expression of plasma thrombomodulin in type-2 hereditary hemorrhagic telangiectasia: a study of a Chinese family].

OBJECTIVE: To analysis and define the clinical phenotype and related mutation of hereditary hemorrhagic telangiectasia. (HHT). METHODS: The proband of a Chinese HHT family, female, aged 48, and 2 of her family members: her father, aged 74, and her brother, aged 44 underwent nasal cavity endoscopy and automatic photochonography to observe the capillaries in nasal mucosa. Samples of peripheral blood were collected. The exons 3, 7, and 8 of the activin receptor-like kinase 1 (ALK1) gene of the proband and her family members and 2 healthy people as contrds were amplified by polymerase chain reaction, and the PCR products were sequenced. The levels of plasma thrombomodulin (TM) of the proband and her family members were detected by Western blotting combined with density screening. RESULTS: Except the mother and sister-in-law, other 4 of the family members had epistaxis or bleeding in other sites. The proband and her father had obvious telangiectasis of nasal mucosa or finger skin respectively. ALK1 gene analysis confirmed that a C1231T mutation (CGG-->TGG) in the exon 8 existed in the proband, her brother, and her father, no mutation was found in her sister in law, her nephew, and the healthy persons. Six bands were shown in the expression of plasma thrombomodulin. Density screening was conducted for the 2 bands with differential expression: those with the molecular masses of 56,000 and 28,000. The result of density screening showed that the average value of screening at the 56,000 band was 218.3 in the normal controls, significantly higher than that of the HTT patients (145.1); and the average value of screening at the 28,000 band was 222.0 in the normal controls, significantly higher than that in the HTT patients (145.1). CONCLUSION: ALK1 gene mutation, a C1231T variation on exon 8, exists in Chinese type 2 HHT individuals. The levels of plasma thrombomodulin levels at the 56,000 and 28,000 fragments of the HTT patients are lower than of normal subjects whose significance and mechanism remain to be elucidated.

Activin Receptors, Type I↗
PubMed2004

Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia.

BACKGROUND: We determined the diagnosis of hereditary hemorrhagic telangiectasis (HHT) in a suspected HHT family, identified ALK1 gene mutation and established a gene diagnosis method of HHT. The level of related plasma proteins (transforming growth factor beta and thrombomodulin) were also analyzed. METHODS: Bleeding history and family history were collected; Dilatant nasal mucosal capillaries in proband were observed under nasal cavity endoscope; exons 3, 7, 8 of ALK1 gene in proband and her family members were amplified with polymerase chain reaction (PCR), and the PCR products were analyzed. Using enzyme-linked immunosorbent assay (ELISA), plasma TGF-beta1 and TGF-beta2 concentrations were measured. Plasma thrombomodulin (TM) level was detected by Western blotting. RESULTS: Of all family members, four had epstaxis, two had evident telangiectases on skin or mucosa. Gene screening results showed that C to T substitution at position 1231 in exon 8 of ALK1 gene (CGG-->TGG) existed in proband, her affected brother and their father. The mutation did not exist in proband's sister-in-law and nephew. Plasma TGF-beta1 concentrations in the affected HHT was 20,538, 17,194, 13,131 pg/ml, while that of normal control and unaffected family members was 15,950, 20,297, 12,836 pg/ml, respectively. Plasma TGF-beta2 in HHT patients was 14,502, 9550, 10,592 and that of normal controls 8579, 20,297, 7680 pg/ml respectively. Level of plasma TM was in HHT subjects significantly lower than in normal subjects. CONCLUSIONS: Chinese HHT individuals have mutant ALK1 gene, a C1231T variation on exon 8 of ALK1 is responsible for HHT clinical phenotypes in this family. ALK1 gene analysis, together with special clinical phenotypes and family history, provides a reliable method in diagnosing HHT. In affected HHT subjects, plasma TGFbeta levels were not obviously different from those of normal subject; while plasma TM concentration was significantly lower than that in normal subjects. The significance and mechanism remain to be elucidated.

Activin Receptors, Type I↗